Diagnosis

Yesterday we got the call that the results were in from Daphne’s genetic test.

This test was drawn in April with her normal blood work and we did not know that until mid May (trust me it’s a story and a process to get this test done) and thankfully because only waiting 2 weeks was tough, I can only imagine what 6 weeks would have felt like.

We were a house divided on what we wanted to see.

I did not want a result, continuing my same mentality that if “we” don’t know then it’s nothing serious.

Rich wanted a result to know what path to go down.

[Insert sense of humor] I hate being wrong or proved wrong!

The test told us that Daphne has Leukoencephlopathy with thalamus and brainstem involvement (LTBL), also called tRNA.  It is a mutation of the EARS2 gene that she inherited from both Rich and I (we are both recessive carriers).

Now I cannot explain the above yet and do not even know if we call it tRNA or LTBL or what.  We will meet with the doctor on the 16th to understand it more.

I have not even read anything because I can’t describe how I feel, I don’t know if this is numb what I feel, I haven’t broken down crying yet, I get tears in my eyes but its not like before.  I don’t know if it will take time, if it will take me reading articles on it or if I have a sense of feeling at ease knowing we have a path to go down and become experts in.

I will say that as much as I hated things about Dr. H from my previous post he diagnosed Daphne with this mitochondrial disease before the test results were back.

This is a rare disease.  I do not know the numbers yet but I think the number of people in the world is very small.

I do not understand how both of us are carriers of something so rare with no family history.

There are percentages of who else in the family can be impacted by this for their plans to have a family and our chance if we were to even think of another child but we have only read that online and not talked to the genetics doc about this so I won’t write anything on the unknown.

Below are some articles or genetic counselor sent us in case you wanted to read and not get lost googling.  I have not even read these yet.

20160603151557958 [14469]

mitochondrial tRNA synthetase review article [14467]

Zevani article [14468]

Thank you for your continued thoughts and prayers!

Desiree

11 thoughts on “Diagnosis”

  1. I’m sure you have mixed feelings about knowing the test results, but hopefully this begins the exploration of treatment specific to Daphne’s condition! Thank you for being so open about this tough journey; we wish and hope for the very best for Daphne, and are thankful to be keep abreast. We continue to be inspired by your strength and send our love.

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  2. Continued prayers as you all figure out your next steps. I know you all will not leave any stone unturned as you look for the best options to help Daphne! Love you all!

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  3. We are inspired by your strength! Can’t help but smile hearing Daphne’s giggle and seeing her smile! The interaction between sisters is adorable! Thanks for sharing these moments! Love you!

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  4. We have our church Life Group praying for you. Thankful for your blog that keeps us on top of how to pray. You are in our thoughts!

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  5. Thankful for your blog that keeps us up-to-date with things. I know you will do everything in your power for your little baby Daphne. I love seeing the pics and videos. Thoughts and prayers! Love you all!!

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  6. Thank you for the blogs. Daphne and Adelaide are blessed to have deeply loving parents in you and Rich.You are in our thoughts and prayers every day.miss you,love you…

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